Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500707 | SCV000594234 | likely benign | not specified | 2017-02-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000958047 | SCV001104872 | benign | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001172212 | SCV001335198 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | CSF3R: BP4, BP7, BS2 |
Genome Diagnostics Laboratory, |
RCV001172212 | SCV001929486 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001172212 | SCV001964586 | likely benign | not provided | no assertion criteria provided | clinical testing |